Lamin A/C gene and the heart - How genetics may impact clinical care

[摘要] Lamins are type V intermediate filament proteins that, thanks to their tridimensional structure, are able to polymerize, forming an organized meshwork. The lamin polymers lie between the inner nuclear membrane and the chromatin and have a complex role in maintaining nuclear shape and structure, transcriptional regulation, nuclear pore positioning and function, and heterochromatin organization (1). The lamin A/C gene (LMNA) produces two principal isoforms by alternative splicing, lamin A and C, which are expressed in a variety of terminally differentiated tissues; therefore, LMNA mutations can cause multiple seemingly disparate diseases including dilated cardiomyopathies (DCM) with conduction disease (CMD1A), the premature aging syndrome Hutchinson's progeria, skeletal myopathies (Emery-Dreifuss and limb-girdle muscular dystrophies), Charcot-Marie-Tooth type 2B1, familial partial lipodystrophy, restrictive dermopathy, and mandibuloacral dysplasia, along with various overlapping phenotypes and rare variants (1,2).

[发布日期] 2008-10-07

[关键词] laminopathy;dilated cardiomyopathy;sudden death;genetics